Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:27185827
- GRCh38:
- Chr17:28858809
| ERAL1, LOC126862526 | | Perrault syndrome 6, not provided | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:27182203
- GRCh38:
- Chr17:28855185
| ERAL1 | A51T | Perrault syndrome 6 | Uncertain significance
(May 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:27185500
- GRCh38:
- Chr17:28858482
| ERAL1, LOC126862526 | N236I, N235I | Perrault syndrome 6 | Pathogenic
(Jul 10, 2017) | no assertion criteria provided |